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Routine readings described mild cerebral atrophy in 2 of 7 patients,but no caudate or putamen abnormalities were reported.However,on the directed blinded rereading,small caudates were suspect in 5 of 7 cases and abnormalities in cerebral size and cranium were identified.Volumetric studies of the patients with LNS confirmed a 34%decrease in caudate volume,and a 17%decease in total cerebral volume,and a 12%decrease in putamen volume.To our knowledge,this is the first demonstration of consistent neuroanatomic abnormalities in LNS.The finds are reduced basal ganglia volume are consistent with the dystonic movement disorder. |
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basal ganglia basal ganglia,degeneration basal ganglia,lesion of Lesch-Nyhan syndrome MRI MRI,abnormal MRI,volumetry striatum,lesion of
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